基因名:
CRYM
产品别名:
DFNA40; THBP; CRYM; crystallin mu; crystallin mu; ketimine reductase mu-crystallin; NADP-regulated thyroid-hormone binding protein; mu-crystallin homolog; thiomorpholine-carboxylate dehydrogenase; CRYM蛋白;
背景信息:
Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]